Ghezzo et al. Supplemental material:
Cognitive, neuropsychological and adaptive assessment
a) WISC-III: Wechsler Intelligence Scale revised for children between the ages of 6 years and 16 years
and 11 months [1].
b)
WAIS-R: Wechsler Adult Intelligence Scale - Revised for subjects aged 17 years or more [2].
c) Short-term Verbal Memory: Digit Span subtests (WAIS-R) were administered. Digit Span subtest is
composed by two different tasks: Digit Forward (repetition of a series of numbers in their original
order) and Digit Backward (repetition of a series of numbers in reverse).
d) Spatial Span (Corsi’s Block Test - [3]: the test evaluates the visuo-spatial short-term memory.
Visuo-spatial span refers to the longest series of items that the subject can remember in the same
order immediately after presentation.
e) Categorical fluency [4] (modified): Semantic fluency test of lexical recovery. Each subject nominates
in one minute of time the largest number of elements belonging to 4 categories (colours, animals,
fruits, cities).
f)
Token Test [5]: test of the syntactic and propositional comprehension in receptive language. The
score ranges for 0 to 36 and resulted from the sum of correct answers of the subject.
g) Phonological fluency [6] (modified): test of lexical recovery based on phonological clue (words start
with sound /a/; /s/; /f/). Subject have one minute for each phonological category to name the
largest number of words.
h) Tower of London: The Tower of London (TOL) is a neuropsychological test originally developed by
[7] and used to assess problem-solving and planning skills. It is based on the use of a tool consisting
of three pegs of different lengths, in which are strung three balls (one red, one green and one
blue): the subject must move these marbles in a number of moves in order to get the configuration
indicated by the examiner. There are 12 problems of different difficulties: we chose to collect only
the “perfect solution score” (the number of problems correctly solved in the first trial, using the
minimum number of moves) because this parameter has been related to planning ability and to
the formulation of strategies [8].
i)
Frontal Assessment Battery (FAB) [9]: this test is a short neuropsychological tool devised for the
fast bedside screening of frontal functions. The FAB consists of six subtests, each exploring
functions related to the frontal lobes: conceptualization (similarities task), mental flexibility
(phonological fluency task), motor programming (Luria’s motor series), sensitivity to interference
(conflicting instructions task), inhibitory control (go-no-go task), and environmental autonomy
(prehension behaviour). An Italian version of the FAB [10] was administered to our study group by
CC.
j)
The Visual Object and Space Perception Battery – VOSP [11]: the test consists of 4 subtests that
measure visual object perception (Incomplete Letters; Silhouettes; Object Decision; Progressive
Silhouettes) and 4 visual space perception tasks (Dot Counting; Position Discrimination; Number
Location; Cube Analysis). The VOSP battery is preceded by a basic visual screening task that checks
whether the subject’s visual sensory capacities are sufficiently intact to permit further examination
(Shape Detection Screening Test- SS.VO.). VOSP was administered by CC.
k) Laterality assessment: was performed by an experienced psychomotricist (CC). It was carried out a
qualitative assessment of the prevalence of side (laterality) through objective evidence such as:
Upper Limb: Pen (use), hammer (use), Comb (use), unscrew / screw, grasp his wrist, his fists
Overlap, Overlap indices. Lower Limb: Kicking a ball, climb on a bench, jumping / balancing on one
foot, Stand in an upright position. Eye: look through a telescopic tool and through a hole; to wink.
The laterality of the subjects was defined as follows: left when all the items were performed with
the left limb or eye; right when all the items were performed with the right limb or eye. Mixed
laterality was defined when there was a change in the limb/eye while performing a task, or when
the tasks were not performed with the same limb/eye.
l)
Vineland Adaptive Behaviour Scales (VABS) [12]: the test assesses personal autonomy and social
responsibility of individuals from birth to adulthood through questions designed to assess the skills
actually possessed by the subject at the time of evaluation. The scales are used with both nondisabled and disabled persons. The questionnaire in its complete form consists of 540 items that
include the following areas: communication, daily living skills, socialization, motor skills. The
questionnaire was directly administered to parents, or whoever takes care of the DS persons, by
MCS, AG and AP.
m) DSQIID Questionnaire (Dementia Screening Questionnaire for Individuals with Intellectual
Disabilities, [13] to identify predictors of dementia, which involves assigning a score for each
question: a total score equal to or greater than 20 is indicative of dementia. DSQIID has been
evaluated in adults with DS and had excellent inter-rater reliability, sensitivity, and specificity
[14,15] and an excellent psychometric characteristics showed also in the Italian version (T.
Gomiero, personal communication).
References
1
Wechsler D., WISC-III: Wechsler intelligence scale for children III, New York, The Psychological
Corporation, 1991 –Adattamento italiano di Arturo Orsini e Laura Picone O.S. Organizzazioni
Speciali, Firenze 2006
2
Wechsler, D. (1981), WAIS-R. Scala d’Intelligenza Wechsler per Adulti-Riveduta. Tr. it. O.S.
Organizzazioni Speciali, Firenze 1997
3
Milner B (1971) Interhemispheric differences in the localization of psychological processes in man.
Br Med Bull 27: 272-277.
4
Orsini A, Grossi D, Capitani E, Laiacona M, Papagno C, Vallar G (1987) Verbal and Spatial Immediate
Memory Span. Italian Journal of Neurological Science 8: 539-548.
5
De Renzi E, Vignolo LA (1962) The token test: a sensitive test receptive disturbances in aphasics.
Brain 85: 665-78.
6
Novelli G, Papagno C, Capitani E, Laiacona N, Vallar G, Cappa S.F (1986) Tre test clinici di ricerca e
produzione lessicale. Taratura su soggetti normali. Archivio di Psicologia, Neurologia e Psichiatria
47: 477-506.
7
Shallice T (1982) Specific impairments of planning. Philosophical Transactions, Royal Society of
London. B. Biological Science 298: 199–209.
8
Levin H, Culhane K ,Hartmann H, Evankovich K, Mattson A J, Harward H et al. (1991) Developmental
changes in performance on tests of purported frontal lobe functioning. Developmental
Neuropsychology 7: 377–395
9
Dubois B, Slachevsky A, Litvan I, Pillon B (2000) The FAB: a frontal assessment battery at bedside.
Neurology 55: 1621-1626
10 Appollonio I, Piamarta F, Isella V, Leone M, Consoli T, Nichelli P (2004) Strumenti di lavoro: la
Frontal Assessment Battery (FAB). Demenze 7: 28–33
11 Warrington EK, Merle J (1991) The Visual Object and Space Pereption Battery, Thames Valley Test
Company.
12 Sparrow SS, Balla DA, Chicchetti DV (2003) Vineland adaptive behavior Scales: intervista- forma
completa. Adattamento italiano a cura di Giulia Balboni e Luigi Pedrabissi. O.S Organizzazioni
Speciali; Firenze
13 Deb S, Hare M, Prior L, Bhaumik S (2007a) Dementia screening questionnaire for individuals with
intellectual disabilities. British Journal of Psychiatry 190: 440-444.
14 Deb S, Hare M, Prior L (2007b) Symptoms of dementia among adults with Down’s syndrome: a
qualitative study. Journal of Intellectual Disability Research 51: 726–739.
15 Parmenter T R (2008) The dementia screening questionnaire for individuals with intellectual
disabilities has high sensitivity and specificity in adults with Down's syndrome. Evidence Based
Mental Health 11: 11.
Table S1: DS persons who scored “0” at each neuropsychological test
Test
Tower of London
Digit span forward
Digit span backward
Spatial span (Corsi)
Token test (comprehension)
Phonemic fluency
Semantic fluency
Frontal Assessment Battery FAB total score
FAB similarity
FAB verbal fluency
FAB motor series
FAB conflictual instructions
FAB go-no go
FAB prehension
VOSP Entry test S.S.-V.O. (persons who did not pass the
entry test)
VOSP subtest 5 dot counting
VOSP subtest 6 position discrimination
VOSP subtest 7 number location
VOSP subtest8 cube analysis
Number of DS persons
who scored 0 (null)
15
9
36
13
4
13
5
1
21
35
8
28
30
5
Number of DS persons
who performed the test
62
65
65
63
65
65
65
59
59
59
59
59
59
59
%
24%
13%
55%
21%
6%
20%
8%
2%
36%
60%
14%
48%
51%
8%
13
4
2
18
2
60
47
47
47
47
22%
9%
4%
38%
4%
Table S2: Analysis of DSQIID data indicating a worsened condition per single item. Numbers of persons are
reported per age group and in the total sample. Worsening is considered when the answer to the item is
“always but worse”, or “new symptoms”, or “yes”.
ITEM
Cannot wash and/or bathe without help
Cannot dress without help
Dresses inappropriately
Undress inappropriately
Needs help eating
Needs help using the bathroom
Incontinent
Does not initiate conversation
Cannot find words
Cannot follow simple instruction
Cannot follow more than one instruction at a time
Stops in the middle of a task
Cannot read
Cannot write
Changed sleep pattern
Wakes frequently at night
Confused at night
Sleeps during the day
Wanders at night
Cannot find way in familiar surroundings
Wanders
Loses track of time
Not confident walking over small tracks, line on the grounds, or
uneven surfaces
Unsteady walk, loses balance
Cannot walk unaided
Cannot recognise familiar persons
Cannot remember names of familiar persons
Cannot remember recent events
Withdraws from social activities
Withdraws from person
Loss of interest in hobbies and activities
Seems to go into own world
Obsessive or repetitive
Hides or hoards objects
Loses objects
Puts familiar things in wrong places
Does not know what to do with familiar objects
Appears insecure
Appears anxious
Appears depressed
Shows aggression
Fits/epilepsy
Talks to self
Lost some skills (e.g. brushing teeth)
Speaks (or signs) less
Seems generally more tired
Appears tearful, gets more easily upset
Appears generally slower
Slower speech
Appears more lazy
Walks slower
Generally appears more forgetful
Generally appears more confused
18-29 years
30-39 years
≥40 years
total
0
0
0
0
0
0
1
1
0
0
0
0
0
1
1
0
0
0
0
0
0
0
0
0
0
0
0
0
0
2
1
0
1
0
0
0
2
1
0
0
0
0
0
0
3
1
0
0
0
2
3
1
1
1
1
2
0
1
1
0
1
0
1
2
1
3
3
1
0
0
0
2
4
4
2
1
2
2
0
2
4
1
1
0
1
2
1
3
0
0
0
0
0
0
0
0
2
0
1
1
0
0
0
0
1
1
0
0
0
0
1
1
1
3
1
2
1
0
0
1
1
0
0
0
0
2
0
2
0
0
0
0
0
0
1
1
2
0
0
0
0
3
5
0
4
2
5
5
0
0
3
1
0
0
0
0
2
0
4
3
1
2
2
0
0
0
0
0
0
1
2
4
3
6
4
3
4
4
4
3
4
4
2
0
0
0
0
4
0
8
3
2
3
2
0
0
1
2
3
0
1
2
4
7
12
5
10
7
11
10
3
4
Table S3. A: Neuropsychological and cognitive test; B Vineland Adaptive Behaviour Scale.
Comparison between the means values in 3 age groups over 18 years, performed using the ANOVA or the
equivalent non parametric test (*=Kruskal-Wallis). The values are expressed as means ± SD. False Discovery
Rate values (FDR) are reported for each item. In bold significant p values are reported. In square brackets the
number of subjects evaluated for groups subdivided for age. 18-29 years group = C; 30-39 years group = D;
≥40 years group= E.
A
18-29 years=
C
30-39 years=
D
≥40 years= E
P=
FDR
2,75 ± 1,39
2,46 ± 1,22
2,14 ± 1,46
2,40 ± 1,30
1,47 ± 1,18
2,00 ± 1,19
0,0134
0,4154
0,0387
0,4903
E vs C
LANGUAGE
Semantic fluency [C=24, D=15, E=18]
Comprehension (Token test)*
29,79 ± 13,21
21,35 ± 8,52
25,50 ± 12,74
19,50 ± 9,05
15,76 ± 10,91
11,92 ± 6,87
0,0032
0,0012
0,0203
0,0104
E vs C
E vs D; E vs C
EXECUTIVE FUNCTIONS
Phonemic fluency* [C=24, D=16, E=17]
7,79 ± 6,65
6,19 ± 4,58
1,53 ± 2,00
0,0005
0,0091
E vs D; E vs C
1,17 ± 1,37
4,23 ± 2,65
1,47 ± 0,92
3,31 ± 3,59
0,39 ± 0,92
1,35 ± 2,29
0,0201
0,0110
0,0523
0,0358
E vs C
FRONTAL ASSESSMENT BATTERY-FAB
[C=19, D=15, E=17]
FAB total score
Similarity*
Phonological fluency*
Motor series*
Conflictual instructions*
Go-no go*
Prehension behaviour*
8,37 ± 3,71
1,10 ± 1,00
0,68 ± 0,75
1,74 ± 0,93
1,05 ± 1,08
1,10 ± 1,00
2,68 ± 0,75
8,80 ± 3,43
1,07 ± 0,88
0,53 ± 0,64
2,27 ± 1,03
0,87 ± 1,06
1,07 ± 1,10
3,00 ± 0,00
4,59 ± 2,50
0,65 ± 0,86
0,06 ± 0,24
1,23 ± 1,25
0,35 ± 0,61
0,18 ± 0,39
2,12 ± 1,32
0,0007
0,2683
0,0078
0,0360
0,0863
0,0039
0,0364
0,0091
0,3488
0,0338
0,0728
0,1402
0,0203
0,0728
VISUAL OBJECTS and SPACE PERCEPTIONS BATTERYVOSP (cut-off) [C=20, D=15, E=8]
Incomplete Letters (17)*
Silhouettes (16)
Object Decision (15)
Progressive Silhouettes (14)*
Dot Counting (8 )*
Position Discrimination (18)*
Number Location (7)*
Cube Analysis (6)
Total score
16,40 ± 2,44
13,80 ± 4,53
12,30 ± 3,25
9,25 ± 3,64
7,70 ± 2,58
14,05 ± 3,20
2,70 ± 2,77
5,00 ± 2,18
81,20 ± 15,87
16,40 ± 2,26
9,07 ± 3,88
12,60 ± 2,75
8,33 ± 4,05
7,67 ± 2,69
13,53 ± 4,52
1,00 ± 1,36
4,67 ± 2,19
73,27 ± 15,52
14,13 ± 4,64
11,00 ± 4,66
11,50 ± 3,74
9,25 ± 2,31
4,50 ± 3,74
12,88 ± 6,51
1,50 ± 2,83
2,50 ± 1,77
67,25 ± 21,19
0,4765
0,0098
0,7306
0,7203
0,0739
0,9887
0,0510
0,0249
0,1199
0,5387
0,0358
0,7598
0,7598
0,1281
0,9887
0,0947
0,0589
0,1732
WECHSLER SCALE
VERBAL IQ* [C=21, D=10, E=5]
PERFORMANCES IQ*[C=21, D=10, E=5]
53,43 ± 13,02
51,38 ± 12,49
51,60 ± 12,91
52,90 ± 12,44
33,60 ± 20,02
36,20 ± 23,72
0,0991
0,4020
0,1516
0,4909
TOTAL IQ* [C=21, D=10, E=5]
49,71 ± 12,69
48,80 ± 11,84
33,20 ± 19,60
0,2430
0,3325
SHORT MEMORY SPAN
Spatial span (Corsi Test) * [C=24, D=14, E=17]
Digit span forward * [C=24, D=15, E=18]
Digit span backward* [C=24, D=15, E=18]
Tower of London (n° perfect answers)*
[C=22, D=16, E=17]
(p<0,05)
E vs D; E vs C
E vs D; E vs C
E vs D; E vs C
D vs C
B
VINELAND ADAPTIVE BEHAVIOUR SCALE
[C=24, D=17, E=18]
COMMUNICATION*
Receptive*
Expressive*
Written*
DAILY LIVING SKILLS*
Personal*
Domestic*
Community
SOCIALIZATION
Interpersonal relationship
Play and Leisure time
Coping Skills*
MOTOR SKILLS*
Gross Motor Skills*
Fine Motor Skills*
Vineland Total Score (SQ)*
18-29 years= C
30-39 years= D
≥40 years= E
P=
FDR
109,50 ± 14,18
110,50 ± 10,90
107,04 ± 14,23
111,25 ± 14,90
118,29 ± 10,23
110,96 ± 8,57
121,46 ± 10,51
116,63 ± 18,10
119,04 ± 13,97
116,46 ± 15,79
115,00 ± 14,12
118,83 ± 12,52
110,67 ± 6,59
109,83 ± 6,91
110,75 ± 7,93
116,75 ± 10,81
107,71 ± 16,10
106,94 ± 12,89
104,71 ± 14,90
110,41 ± 15,32
117,71 ± 17,11
110,47 ± 11,90
116,35 ± 17,94
120,53 ± 20,87
119,88 ± 17,90
116,47 ± 11,90
114,12 ± 18,30
119,18 ± 16,57
109,00 ± 11,65
107,59 ± 11,68
108,76 ± 12,14
116,00 ± 15,01
100,61 ± 16,51
96,17 ± 18,19
101,78 ± 15,47
99,44 ± 15,49
106,78 ± 16,91
101,44 ± 15,15
107,56 ± 15,45
104,22 ± 18,03
103,28 ± 18,79
103,22 ± 16,05
96,17 ± 19,70
110,22 ± 17,35
104,72 ± 11,03
103,11 ± 9,46
105,44 ± 13,15
105,22 ± 16,15
0,1395
0,0071
0,4269
0,0672
0,0417
0,0965
0,0183
0,0324
0,0050
0,0104
0,0016
0,1858
0,1243
0,0313
0,5222
0,0407
0,1694
0,04
0,4536
0,1039
0,0726
0,1367
0,0622
0,0726
0,0402
0,0442
0,0272
0,2106
0,16
0,0726
0,5222
0,0726
(p<0,05)
E vs D; E vs C
E vs D; E vs C
D vs C
E vs D; E vs C
E vs D; E vs C
E vs D; E vs C
E vs D; E vs C